A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221014



Internal ID22365539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98825797..98825894hg38UCSC Ensembl
chr8:99838025..99838122hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9270n152
Supporting Variantsnssv14342114, nssv14342117, nssv14342115, nssv14342116, nssv14342118
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesSTK3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221014
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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